Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier

Istvan Takacs, Heather Cooper, David D. Weaver, Michael J. Econs

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

Type II autosomal dominant osteopetrosis (ADO2) is an inherited disorder characterized by increased skeletal mass and characteristic abnormalities evident on radiography. Although previous investigators have described nonpenetrant individuals (carriers), it is not known whether carriers manifest subtle abnormalities. We hypothesized that ADO2 carriers would have an abnormality of osteoclast function that would lead to changes in bone mineral density (BMD), in serum tartrate-resistant acid phosphatase (TRAP), or in creatine kinase isoenzyme BB (CK-BB) levels that would permit carrier recognition. We identified a female carrier in a well-established ADO2 family and measured BMD, serum TRAP, and CK-BB concentrations. She had normal BMD, serum TRAP, and CK-BB concentrations. Thus, these measurements cannot be used to exclude carrier status in individuals who are seen for genetic counseling. However, measurements in other asymptotic carriers are necessary before concluding that these measurements are normal in all or most nonpenetrant individuals.

Original languageEnglish (US)
Pages (from-to)9-12
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume85
Issue number1
DOIs
StatePublished - Jul 2 1999

Keywords

  • Autosomal dominant osteopetrosis type II (ADO2)
  • Bone mineral density (BMD)
  • Carrier
  • Creatine kinase isoenzyme BB (CK-BB)
  • Penetrance
  • Tartrate- resistant acid phosphatase (TRAP)

ASJC Scopus subject areas

  • Genetics(clinical)

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